A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012269



Internal ID19101487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211972762..212050915hg38UCSC Ensembl
Innerchr2:212837487..212915640hg19UCSC Ensembl
Innerchr2:212545732..212623885hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3878154
hg1978154
hg1878154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585625, nssv3585624
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)nsv1012269
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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