A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988772



Internal ID18887870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51652584..51652876hg38UCSC Ensembl
Outerchr6:51517382..51517674hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135218
Supporting Variants
SamplesKWS2
Known GenesPKHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988772
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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