A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2617



Internal ID15547180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:14242244..14287701hg38UCSC Ensembl
Outerchr2:14382368..14427825hg19UCSC Ensembl
Outerchr2:14299819..14345276hg18UCSC Ensembl
Outerchr2:14332966..14378423hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3845458
hg1945458
hg1845458
hg1745458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6820
SamplesNA12156
Known GenesLINC00276
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)nsv2617
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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