A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3771973



Internal ID18968700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157576826..157577156hg38UCSC Ensembl
chr2:158433338..158433668hg19UCSC 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 Variantsnsv1072038
Supporting Variants
SamplesKWP1
Known GenesACVR1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3771973
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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