A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9546



Internal ID15539768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41226489..41243888hg38UCSC Ensembl
Outerchr17:39382741..39400140hg19UCSC Ensembl
Outerchr17:36636267..36653666hg18UCSC Ensembl
Outerchr17:36636267..36653666hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3817400
hg1917400
hg1817400
hg1717400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2049
Supporting Variants
SamplesNA18507
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-8
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)nssv9546
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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