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dbVar

Database of genomic structural variation

nsv4374553

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:20,767

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: 263 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):21,414,468-21,435,234

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4374553	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	21,414,468	21,435,234
nsv4374553	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	21,567,402	21,588,168

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15666043	copy number loss	5-0034-003	SNP array	Genotyping	20
nssv15670228	copy number loss	7-0287-003	SNP array	Genotyping	20
nssv15678496	copy number loss	206763	SNP array	Genotyping	19
nssv15679771	copy number loss	208586	SNP array	Genotyping	23
nssv15690074	copy number loss	OCD126-896901	SNP array	Genotyping	22
nssv15702362	copy number loss	200224	SNP array	Genotyping	16

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15666043	Remapped	Perfect	NC_000012.12:g.(?_ 21414468)_(2143523 4_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	21,414,468	21,435,234
nssv15670228	Remapped	Perfect	NC_000012.12:g.(?_ 21414468)_(2143523 4_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	21,414,468	21,435,234
nssv15678496	Remapped	Perfect	NC_000012.12:g.(?_ 21414468)_(2143523 4_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	21,414,468	21,435,234
nssv15679771	Remapped	Perfect	NC_000012.12:g.(?_ 21414468)_(2143523 4_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	21,414,468	21,435,234
nssv15690074	Remapped	Perfect	NC_000012.12:g.(?_ 21414468)_(2143523 4_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	21,414,468	21,435,234
nssv15702362	Remapped	Perfect	NC_000012.12:g.(?_ 21414468)_(2143523 4_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	21,414,468	21,435,234
nssv15666043	Submitted genomic		NC_000012.11:g.(?_ 21567402)_(2158816 8_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	21,567,402	21,588,168
nssv15670228	Submitted genomic		NC_000012.11:g.(?_ 21567402)_(2158816 8_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	21,567,402	21,588,168
nssv15678496	Submitted genomic		NC_000012.11:g.(?_ 21567402)_(2158816 8_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	21,567,402	21,588,168
nssv15679771	Submitted genomic		NC_000012.11:g.(?_ 21567402)_(2158816 8_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	21,567,402	21,588,168
nssv15690074	Submitted genomic		NC_000012.11:g.(?_ 21567402)_(2158816 8_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	21,567,402	21,588,168
nssv15702362	Submitted genomic		NC_000012.11:g.(?_ 21567402)_(2158816 8_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	21,567,402	21,588,168

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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