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dbVar

Database of genomic structural variation

nsv3048767

Organism: Homo sapiens

Study:nstd140 (Fan et al. 2017)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:6,788

Publication(s):Fan et al. 2017

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: 322 SVs from 69 studies. See in: genome view

Submitted genomic45,509,370-45,516,157

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3048767	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	45,509,370	45,516,157
nsv3048767	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	45,903,153	45,909,940

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14033415	deletion	NA12878	Sequencing	Local sequence assembly	15,093

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14033415	Submitted genomic		NC_000012.12:g.455 09370_45516157del	GRCh38 (hg38)		NC_000012.12	Chr12	45,509,370	45,516,157
nssv14033415	Remapped	Perfect	NC_000012.11:g.459 03153_45909940del	GRCh37.p13	First Pass	NC_000012.11	Chr12	45,903,153	45,909,940

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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