A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972380



Internal ID19244216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:117982086..117982198hg38UCSC Ensembl
Outerchr2:118739662..118739774hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136400
Supporting Variants
SamplesKWS2
Known GenesCCDC93
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972380
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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