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dbVar

Database of genomic structural variation

nsv3048733

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:11,656

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: 306 SVs from 60 studies. See in: genome view

Submitted genomic10,403,947-10,415,602

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3048733	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	10,403,947	10,415,602
nsv3048733	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	11,096,855	11,108,510

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14026184	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
nssv14026184	Submitted genomic		NC_000021.9:g.1040 3947_10415602del	GRCh38 (hg38)		NC_000021.9	Chr21	10,403,947	10,415,602
nssv14026184	Remapped	Perfect	NC_000021.8:g.1109 6855_11108510del	GRCh37.p13	First Pass	NC_000021.8	Chr21	11,096,855	11,108,510

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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