A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7009



Internal ID15536855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52463173..52495196hg38UCSC Ensembl
Outerchr3:52497189..52529212hg19UCSC Ensembl
Outerchr3:52472229..52504252hg18UCSC Ensembl
Outerchr3:52472229..52504252hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg387417
hg197417
hg187417
hg177417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3819
Supporting Variants
SamplesNA12156
Known GenesNISCH
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)nssv7009
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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