A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2156



Internal ID15200033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79039479..79064102hg38UCSC Ensembl
Outerchr17:77035561..77060184hg19UCSC Ensembl
Outerchr17:74547156..74571779hg18UCSC Ensembl
Outerchr17:74547156..74571779hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3824624
hg1924624
hg1824624
hg1724624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9969
SamplesNA18507
Known GenesC1QTNF1
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)nsv2156
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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