A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2260



Internal ID15194967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36337775..36368588hg38UCSC Ensembl
Outerchr2:36564918..36595731hg19UCSC Ensembl
Outerchr2:36418422..36449235hg18UCSC Ensembl
Outerchr2:36476569..36507382hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg388404
hg198404
hg188404
hg178404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2680
Supporting Variants
SamplesNA18555
Known GenesCRIM1, LOC100288911
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)nssv2260
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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