A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538648



Internal ID15166104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157462089..157493903hg38UCSC Ensembl
Innerchr5:156889097..156920911hg19UCSC Ensembl
Innerchr5:156821675..156853489hg18UCSC Ensembl
Innerchr5:156821675..156853489hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3831815
hg1931815
hg1831815
hg1731815
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462497
Supporting Variants
SamplesNINDS_64
Known GenesADAM19, NIPAL4
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)nssv538648
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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