A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011572



Internal ID19100789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211975341..212287554hg38UCSC Ensembl
Innerchr2:212840066..213152279hg19UCSC Ensembl
Innerchr2:212548311..212860524hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38312214
hg19312214
hg18312214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585626
Samples
Known GenesERBB4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011572
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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