A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975554



Internal ID19246197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100117363..100117433hg38UCSC Ensembl
Outerchr7:99714986..99715056hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124248
Supporting Variants
SamplesKWS2
Known GenesTAF6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975554
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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