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dbVar

Database of genomic structural variation

nsv4368170

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:597,479

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: 5618 SVs from 115 studies. See in: genome view

Remapped(Score: Perfect):46,110,126-46,707,604

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4368170	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	46,110,126	46,707,604
nsv4368170	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,030
nsv4368170	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	44,187,492	44,784,970

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15633910	copy number gain	10-1155-002	SNP array	Genotyping	23
nssv15641277	copy number gain	14-0312-001	SNP array	Genotyping	25
nssv15641430	copy number gain	14-0349-003	SNP array	Genotyping	20
nssv15650773	copy number gain	2-1368-001	SNP array	Genotyping	21
nssv15678021	copy number gain	241962S	SNP array	Genotyping	24

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15633910	Remapped	Pass	NT_187663.1:g.(?_8 12225)_(1227030_?) dup	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,030
nssv15641277	Remapped	Pass	NT_187663.1:g.(?_8 12225)_(1227030_?) dup	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,030
nssv15641430	Remapped	Pass	NT_187663.1:g.(?_8 12225)_(1227030_?) dup	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,030
nssv15650773	Remapped	Pass	NT_187663.1:g.(?_8 12225)_(1227030_?) dup	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,030
nssv15678021	Remapped	Pass	NT_187663.1:g.(?_8 12225)_(1227030_?) dup	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	1,227,030
nssv15633910	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4670760 4_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,707,604
nssv15641277	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4670760 4_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,707,604
nssv15641430	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4670760 4_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,707,604
nssv15650773	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4670760 4_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,707,604
nssv15678021	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4670760 4_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,707,604
nssv15633910	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4478497 0_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,784,970
nssv15641277	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4478497 0_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,784,970
nssv15641430	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4478497 0_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,784,970
nssv15650773	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4478497 0_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,784,970
nssv15678021	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4478497 0_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,784,970

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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