A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468598



Internal ID15181977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64709578..64817487hg38UCSC Ensembl
Innerchr11:64477050..64584959hg19UCSC Ensembl
Innerchr11:64233626..64341535hg18UCSC Ensembl
Innerchr11:64233626..64341535hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38107910
hg19107910
hg18107910
hg17107910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv153n27
Supporting Variantsnssv543703
Samples1782681313_A
Known GenesMAP4K2, MEN1, NRXN2, PYGM, RASGRP2, SF1
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)nsv468598
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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