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dbVar

Database of genomic structural variation

nsv4380397

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:520,683

Publication(s):Zarrei et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 2900 SVs from 96 studies. See in: genome view

Remapped(Score: Good):21,988,851-22,509,533

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4380397	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	21,988,851	22,509,533
nsv4380397	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	22,457,091	22,978,516

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15654700	copy number gain	3-0193-000	SNP array	Genotyping	19
nssv15656292	copy number gain	4-0001-004	SNP array	Genotyping	19
nssv15683513	copy number gain	OCD125-896992	SNP array	Genotyping	24
nssv15686393	copy number gain	OCD135-896461	SNP array	Genotyping	12
nssv15688147	copy number gain	209354	SNP array	Genotyping	18
nssv15688767	copy number gain	OCD46-S_0625-5375-3	SNP array	Genotyping	16
nssv15690360	copy number gain	OCD142-0625-7951-1	SNP array	Genotyping	20
nssv15694389	copy number gain	OCD87-896882	SNP array	Genotyping	20
nssv15696907	copy number gain	144444	SNP array	Genotyping	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15654700	Remapped	Good	NC_000014.9:g.(?_2 1988851)_(22509533 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,988,851	22,509,533
nssv15656292	Remapped	Good	NC_000014.9:g.(?_2 1988851)_(22509533 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,988,851	22,509,533
nssv15683513	Remapped	Good	NC_000014.9:g.(?_2 1988851)_(22509533 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,988,851	22,509,533
nssv15686393	Remapped	Good	NC_000014.9:g.(?_2 1988851)_(22509533 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,988,851	22,509,533
nssv15688147	Remapped	Good	NC_000014.9:g.(?_2 1988851)_(22509533 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,988,851	22,509,533
nssv15688767	Remapped	Good	NC_000014.9:g.(?_2 1988851)_(22509533 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,988,851	22,509,533
nssv15690360	Remapped	Good	NC_000014.9:g.(?_2 1988851)_(22509533 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,988,851	22,509,533
nssv15694389	Remapped	Good	NC_000014.9:g.(?_2 1988851)_(22509533 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,988,851	22,509,533
nssv15696907	Remapped	Good	NC_000014.9:g.(?_2 1988851)_(22509533 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,988,851	22,509,533
nssv15654700	Submitted genomic		NC_000014.8:g.(?_2 2457091)_(22978516 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,457,091	22,978,516
nssv15656292	Submitted genomic		NC_000014.8:g.(?_2 2457091)_(22978516 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,457,091	22,978,516
nssv15683513	Submitted genomic		NC_000014.8:g.(?_2 2457091)_(22978516 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,457,091	22,978,516
nssv15686393	Submitted genomic		NC_000014.8:g.(?_2 2457091)_(22978516 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,457,091	22,978,516
nssv15688147	Submitted genomic		NC_000014.8:g.(?_2 2457091)_(22978516 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,457,091	22,978,516
nssv15688767	Submitted genomic		NC_000014.8:g.(?_2 2457091)_(22978516 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,457,091	22,978,516
nssv15690360	Submitted genomic		NC_000014.8:g.(?_2 2457091)_(22978516 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,457,091	22,978,516
nssv15694389	Submitted genomic		NC_000014.8:g.(?_2 2457091)_(22978516 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,457,091	22,978,516
nssv15696907	Submitted genomic		NC_000014.8:g.(?_2 2457091)_(22978516 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	22,457,091	22,978,516

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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