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dbVar

Database of genomic structural variation

nsv4373070

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:598,178

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: 5623 SVs from 115 studies. See in: genome view

Remapped(Score: Perfect):46,110,126-46,708,303

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4373070	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	46,110,126	46,708,303
nsv4373070	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,729
nsv4373070	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	44,187,492	44,785,669

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15615101	copy number gain	1-0746-003	SNP array	Genotyping	21
nssv15630554	copy number gain	1-0576-002	SNP array	Genotyping	25
nssv15638823	copy number gain	14-0034-001	SNP array	Genotyping	20
nssv15671563	copy number gain	7-0311-003	SNP array	Genotyping	24
nssv15699025	copy number gain	188858	SNP array	Genotyping	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15615101	Remapped	Pass	NT_187663.1:g.(?_8 12225)_(1227729_?) dup	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,729
nssv15630554	Remapped	Pass	NT_187663.1:g.(?_8 12225)_(1227729_?) dup	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,729
nssv15638823	Remapped	Pass	NT_187663.1:g.(?_8 12225)_(1227729_?) dup	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,729
nssv15671563	Remapped	Pass	NT_187663.1:g.(?_8 12225)_(1227729_?) dup	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,729
nssv15699025	Remapped	Pass	NT_187663.1:g.(?_8 12225)_(1227729_?) dup	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,729
nssv15615101	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4670830 3_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,708,303
nssv15630554	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4670830 3_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,708,303
nssv15638823	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4670830 3_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,708,303
nssv15671563	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4670830 3_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,708,303
nssv15699025	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4670830 3_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,708,303
nssv15615101	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4478566 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,785,669
nssv15630554	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4478566 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,785,669
nssv15638823	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4478566 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,785,669
nssv15671563	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4478566 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,785,669
nssv15699025	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4478566 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,785,669

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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