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dbVar

Database of genomic structural variation

nsv4376473

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:572,330

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: 5449 SVs from 114 studies. See in: genome view

Remapped(Score: Perfect):46,134,944-46,707,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4376473	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	46,134,944	46,707,273
nsv4376473	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	837,051	1,226,699
nsv4376473	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	44,212,310	44,784,639

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15624416	copy number loss	1-0286-004	SNP array	Genotyping	23
nssv15629999	copy number loss	1-0599-003	SNP array	Genotyping	18
nssv15647367	copy number loss	2-1239-001	SNP array	Genotyping	15
nssv15652831	copy number loss	2-1548-003	SNP array	Genotyping	27
nssv15660301	copy number loss	3-0721-000	SNP array	Genotyping	25

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15624416	Remapped	Pass	NT_187663.1:g.(?_8 37051)_(1226699_?) del	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	837,051	1,226,699
nssv15629999	Remapped	Pass	NT_187663.1:g.(?_8 37051)_(1226699_?) del	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	837,051	1,226,699
nssv15647367	Remapped	Pass	NT_187663.1:g.(?_8 37051)_(1226699_?) del	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	837,051	1,226,699
nssv15652831	Remapped	Pass	NT_187663.1:g.(?_8 37051)_(1226699_?) del	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	837,051	1,226,699
nssv15660301	Remapped	Pass	NT_187663.1:g.(?_8 37051)_(1226699_?) del	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	837,051	1,226,699
nssv15624416	Remapped	Perfect	NC_000017.11:g.(?_ 46134944)_(4670727 3_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,134,944	46,707,273
nssv15629999	Remapped	Perfect	NC_000017.11:g.(?_ 46134944)_(4670727 3_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,134,944	46,707,273
nssv15647367	Remapped	Perfect	NC_000017.11:g.(?_ 46134944)_(4670727 3_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,134,944	46,707,273
nssv15652831	Remapped	Perfect	NC_000017.11:g.(?_ 46134944)_(4670727 3_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,134,944	46,707,273
nssv15660301	Remapped	Perfect	NC_000017.11:g.(?_ 46134944)_(4670727 3_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,134,944	46,707,273
nssv15624416	Submitted genomic		NC_000017.10:g.(?_ 44212310)_(4478463 9_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	44,212,310	44,784,639
nssv15629999	Submitted genomic		NC_000017.10:g.(?_ 44212310)_(4478463 9_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	44,212,310	44,784,639
nssv15647367	Submitted genomic		NC_000017.10:g.(?_ 44212310)_(4478463 9_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	44,212,310	44,784,639
nssv15652831	Submitted genomic		NC_000017.10:g.(?_ 44212310)_(4478463 9_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	44,212,310	44,784,639
nssv15660301	Submitted genomic		NC_000017.10:g.(?_ 44212310)_(4478463 9_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	44,212,310	44,784,639

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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