A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438355



Internal ID15388165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16927333..16938871hg38UCSC Ensembl
Innerchr1:17253828..17265366hg19UCSC Ensembl
Innerchr1:17126415..17137953hg18UCSC Ensembl
Innerchr1:16634909..16646447hg16UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3811539
hg1911539
hg1811539
hg1611539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv469518, nssv469185, nssv469407, nssv469296
SamplesNA19238, NA19207, NA19208, NA19240
Known GenesCROCC
MethodSNP array
AnalysisMendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438355
Frequency
Sample Size269
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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