A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538136



Internal ID15164018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:69765852..69840562hg38UCSC Ensembl
Innerchr1:70231535..70306245hg19UCSC Ensembl
Innerchr1:70004123..70078833hg18UCSC Ensembl
Innerchr1:69943556..70018266hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3874711
hg1974711
hg1874711
hg1774711
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461784
Supporting Variants
SamplesHGDP01285
Known GenesLRRC7
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)nssv538136
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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