A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7977



Internal ID15189201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87320045..87328317hg38UCSC Ensembl
Outerchr4:88241197..88249469hg19UCSC Ensembl
Outerchr4:88460221..88468493hg18UCSC Ensembl
Outerchr4:88598376..88606648hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg388273
hg198273
hg188273
hg178273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4412
Supporting Variants
SamplesNA12156
Known GenesHSD17B13
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv7977
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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