A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468127



Internal ID15181506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215880744..215893095hg38UCSC Ensembl
Innerchr1:216054086..216066437hg19UCSC Ensembl
Innerchr1:214120709..214133060hg18UCSC Ensembl
Innerchr1:212442481..212454832hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3812352
hg1912352
hg1812352
hg1712352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543259
Samples1798860114_A
Known GenesUSH2A
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)nsv468127
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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