A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997749



Internal ID19157286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91460974..91622152hg38UCSC Ensembl
Innerchr2:91653350..91810178hg19UCSC Ensembl
Innerchr2:91017077..91173905hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38161179
hg19156829
hg18156829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3994n100
Supporting Variantsnssv3579468, nssv3579469, nssv3579467
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997749
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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