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dbVar

Database of genomic structural variation

nsv4381719

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:50,799

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: 2698 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):46,148,454-46,199,252

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4381719	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	46,148,454	46,199,252
nsv4381719	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	850,561	901,356
nsv4381719	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	44,225,820	44,276,618

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15625847	copy number gain	1-0389-005	SNP array	Genotyping	16
nssv15633102	copy number gain	10-1118-001	SNP array	Genotyping	17
nssv15656419	copy number gain	2-1717-004	SNP array	Genotyping	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15625847	Remapped	Good	NT_187663.1:g.(?_8 50561)_(901356_?)d up	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	850,561	901,356
nssv15633102	Remapped	Good	NT_187663.1:g.(?_8 50561)_(901356_?)d up	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	850,561	901,356
nssv15656419	Remapped	Good	NT_187663.1:g.(?_8 50561)_(901356_?)d up	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	850,561	901,356
nssv15625847	Remapped	Perfect	NC_000017.11:g.(?_ 46148454)_(4619925 2_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,148,454	46,199,252
nssv15633102	Remapped	Perfect	NC_000017.11:g.(?_ 46148454)_(4619925 2_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,148,454	46,199,252
nssv15656419	Remapped	Perfect	NC_000017.11:g.(?_ 46148454)_(4619925 2_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,148,454	46,199,252
nssv15625847	Submitted genomic		NC_000017.10:g.(?_ 44225820)_(4427661 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,225,820	44,276,618
nssv15633102	Submitted genomic		NC_000017.10:g.(?_ 44225820)_(4427661 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,225,820	44,276,618
nssv15656419	Submitted genomic		NC_000017.10:g.(?_ 44225820)_(4427661 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,225,820	44,276,618

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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