A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004229



Internal ID19093446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97093216..97608974hg38UCSC Ensembl
Innerchr2:97758953..98225437hg19UCSC Ensembl
Innerchr2:97122680..97591869hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38515759
hg19466485
hg18469190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4010n100
Supporting Variantsnssv3729142
Samples
Known GenesANKRD36, ANKRD36B, FAHD2B, LOC100506076, LOC100506123
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004229
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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