A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967741



Internal ID18874278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157576825..157577154hg38UCSC Ensembl
Outerchr2:158433337..158433666hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130413
Supporting Variants
SamplesKWS1
Known GenesACVR1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967741
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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