A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10120



Internal ID15542677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41259259..41276420hg38UCSC Ensembl
Outerchr17:39415511..39432672hg19UCSC Ensembl
Outerchr17:36669037..36686198hg18UCSC Ensembl
Outerchr17:36669037..36686198hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3817162
hg1917162
hg1817162
hg1717162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2050
Supporting Variants
SamplesNA18956
Known GenesKRTAP9-6, KRTAP9-7
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)nssv10120
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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