A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2443



Internal ID15547006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112143297..112172176hg38UCSC Ensembl
Outerchr1:112685919..112714798hg19UCSC Ensembl
Outerchr1:112487442..112516321hg18UCSC Ensembl
Outerchr1:112397961..112426840hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3828880
hg1928880
hg1828880
hg1728880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10201, nssv10981
SamplesNA18956, NA15510
Known Genes
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)nsv2443
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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