A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538987



Internal ID15163325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43002769..43110718hg38UCSC Ensembl
Innerchr6:42970507..43078456hg19UCSC Ensembl
Innerchr6:43078485..43186434hg18UCSC Ensembl
Innerchr6:43078485..43186434hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38107950
hg19107950
hg18107950
hg17107950
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462930
Supporting Variants
SamplesHGDP01172
Known GenesCUL7, KLC4, KLHDC3, MEA1, MRPL2, PPP2R5D, PTK7, RRP36
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv538987
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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