Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4378345

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:55,082

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: 668 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):161,031,062-161,086,143

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4378345	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	161,031,062	161,086,143
nsv4378345	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	161,952,214	162,007,295

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15623135	copy number gain	1-1055-003	SNP array	Genotyping	19
nssv15642892	copy number gain	15-1128-003	SNP array	Genotyping	20
nssv15650989	copy number gain	2-1428-002	SNP array	Genotyping	32
nssv15653956	copy number gain	2-1618-003	SNP array	Genotyping	19
nssv15654447	copy number gain	2-1642-003	SNP array	Genotyping	18
nssv15659550	copy number gain	3-0772-000	SNP array	Genotyping	17
nssv15662917	copy number gain	6-0379-004	SNP array	Genotyping	27
nssv15673867	copy number gain	9-0024-002	SNP array	Genotyping	28
nssv15693730	copy number gain	212366	SNP array	Genotyping	12

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15623135	Remapped	Perfect	NC_000004.12:g.(?_ 161031062)_(161086 143_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	161,031,062	161,086,143
nssv15642892	Remapped	Perfect	NC_000004.12:g.(?_ 161031062)_(161086 143_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	161,031,062	161,086,143
nssv15650989	Remapped	Perfect	NC_000004.12:g.(?_ 161031062)_(161086 143_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	161,031,062	161,086,143
nssv15653956	Remapped	Perfect	NC_000004.12:g.(?_ 161031062)_(161086 143_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	161,031,062	161,086,143
nssv15654447	Remapped	Perfect	NC_000004.12:g.(?_ 161031062)_(161086 143_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	161,031,062	161,086,143
nssv15659550	Remapped	Perfect	NC_000004.12:g.(?_ 161031062)_(161086 143_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	161,031,062	161,086,143
nssv15662917	Remapped	Perfect	NC_000004.12:g.(?_ 161031062)_(161086 143_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	161,031,062	161,086,143
nssv15673867	Remapped	Perfect	NC_000004.12:g.(?_ 161031062)_(161086 143_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	161,031,062	161,086,143
nssv15693730	Remapped	Perfect	NC_000004.12:g.(?_ 161031062)_(161086 143_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	161,031,062	161,086,143
nssv15623135	Submitted genomic		NC_000004.11:g.(?_ 161952214)_(162007 295_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	161,952,214	162,007,295
nssv15642892	Submitted genomic		NC_000004.11:g.(?_ 161952214)_(162007 295_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	161,952,214	162,007,295
nssv15650989	Submitted genomic		NC_000004.11:g.(?_ 161952214)_(162007 295_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	161,952,214	162,007,295
nssv15653956	Submitted genomic		NC_000004.11:g.(?_ 161952214)_(162007 295_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	161,952,214	162,007,295
nssv15654447	Submitted genomic		NC_000004.11:g.(?_ 161952214)_(162007 295_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	161,952,214	162,007,295
nssv15659550	Submitted genomic		NC_000004.11:g.(?_ 161952214)_(162007 295_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	161,952,214	162,007,295
nssv15662917	Submitted genomic		NC_000004.11:g.(?_ 161952214)_(162007 295_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	161,952,214	162,007,295
nssv15673867	Submitted genomic		NC_000004.11:g.(?_ 161952214)_(162007 295_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	161,952,214	162,007,295
nssv15693730	Submitted genomic		NC_000004.11:g.(?_ 161952214)_(162007 295_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	161,952,214	162,007,295

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

You are here: NCBI