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

dbVar

Database of genomic structural variation

nsv4379427

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:24,140

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: 307 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):22,042,911-22,067,050

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4379427	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	22,042,911	22,067,050
nsv4379427	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	22,044,534	22,068,673

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15625540	copy number loss	1-0415-002	SNP array	Genotyping	17
nssv15636018	copy number loss	12-8257-002	SNP array	Genotyping	17
nssv15645847	copy number loss	2-0273-004	SNP array	Genotyping	20
nssv15656921	copy number loss	3-0664-000	SNP array	Genotyping	26
nssv15665670	copy number loss	7-0083-004	SNP array	Genotyping	19
nssv15673476	copy number loss	9-0032-002	SNP array	Genotyping	14
nssv15673499	copy number loss	9-0032-003	SNP array	Genotyping	27
nssv15683224	copy number loss	OCD1007-S_0625-5706-2	SNP array	Genotyping	21

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15625540	Remapped	Perfect	NC_000004.12:g.(?_ 22042911)_(2206705 0_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,042,911	22,067,050
nssv15636018	Remapped	Perfect	NC_000004.12:g.(?_ 22042911)_(2206705 0_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,042,911	22,067,050
nssv15645847	Remapped	Perfect	NC_000004.12:g.(?_ 22042911)_(2206705 0_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,042,911	22,067,050
nssv15656921	Remapped	Perfect	NC_000004.12:g.(?_ 22042911)_(2206705 0_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,042,911	22,067,050
nssv15665670	Remapped	Perfect	NC_000004.12:g.(?_ 22042911)_(2206705 0_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,042,911	22,067,050
nssv15673476	Remapped	Perfect	NC_000004.12:g.(?_ 22042911)_(2206705 0_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,042,911	22,067,050
nssv15673499	Remapped	Perfect	NC_000004.12:g.(?_ 22042911)_(2206705 0_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,042,911	22,067,050
nssv15683224	Remapped	Perfect	NC_000004.12:g.(?_ 22042911)_(2206705 0_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,042,911	22,067,050
nssv15625540	Submitted genomic		NC_000004.11:g.(?_ 22044534)_(2206867 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	22,044,534	22,068,673
nssv15636018	Submitted genomic		NC_000004.11:g.(?_ 22044534)_(2206867 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	22,044,534	22,068,673
nssv15645847	Submitted genomic		NC_000004.11:g.(?_ 22044534)_(2206867 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	22,044,534	22,068,673
nssv15656921	Submitted genomic		NC_000004.11:g.(?_ 22044534)_(2206867 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	22,044,534	22,068,673
nssv15665670	Submitted genomic		NC_000004.11:g.(?_ 22044534)_(2206867 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	22,044,534	22,068,673
nssv15673476	Submitted genomic		NC_000004.11:g.(?_ 22044534)_(2206867 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	22,044,534	22,068,673
nssv15673499	Submitted genomic		NC_000004.11:g.(?_ 22044534)_(2206867 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	22,044,534	22,068,673
nssv15683224	Submitted genomic		NC_000004.11:g.(?_ 22044534)_(2206867 3_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	22,044,534	22,068,673

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