A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2912



Internal ID15200789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127523576..127550255hg38UCSC Ensembl
Outerchr2:128281152..128307830hg19UCSC Ensembl
Outerchr2:127997622..128024300hg18UCSC Ensembl
Outerchr2:127997382..128024060hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3826680
hg1926679
hg1826679
hg1726679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7550, nssv4654
SamplesNA12156, NA19129
Known GenesIWS1, MYO7B
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)nsv2912
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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