A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130952



Internal ID19281696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30908153..30909053hg38UCSC Ensembl
Outerchr1:31381000..31381900hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967652
SamplesKWS2
Known GenesSDC3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130952
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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