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dbVar

Database of genomic structural variation

nsv4373120

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:105,271

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: 3199 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):46,110,126-46,215,322

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4373120	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	46,110,126	46,215,322
nsv4373120	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	917,495
nsv4373120	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	44,187,492	44,292,688

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15648637	copy number gain	2-1258-004	SNP array	Genotyping	26
nssv15650867	copy number gain	2-1408-002	SNP array	Genotyping	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15648637	Remapped	Good	NT_187663.1:g.(?_8 12225)_(917495_?)d up	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	917,495
nssv15650867	Remapped	Good	NT_187663.1:g.(?_8 12225)_(917495_?)d up	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	917,495
nssv15648637	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4621532 2_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,215,322
nssv15650867	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4621532 2_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,215,322
nssv15648637	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4429268 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,292,688
nssv15650867	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4429268 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,292,688

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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