A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3963712



Internal ID18900188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157576834..157577164hg38UCSC Ensembl
Outerchr2:158433346..158433676hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111573
Supporting Variants
SamplesKWS2
Known GenesACVR1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3963712
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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