A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536060



Internal ID15161505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128746961..130390535hg38UCSC Ensembl
Innerchr2:129504535..131148108hg19UCSC Ensembl
Innerchr2:129221005..130864578hg18UCSC Ensembl
Innerchr2:129220765..130864338hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381643575
hg191643574
hg181643574
hg171643574
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459274
Supporting Variants
SamplesHGDP00780
Known GenesCCDC115, CCDC74B, FAR2P1, IMP4, LOC389033, MED15P9, MZT2B, POTEF, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TUBA3E
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)nssv536060
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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