A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3954948



Internal ID19221629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:70092497..70092566hg38UCSC Ensembl
Outerchr17:68088638..68088707hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1109102
Supporting Variants
SamplesKWS1
Known GenesKCNJ16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3954948
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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