A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002171



Internal ID19091388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71551985..71612684hg38UCSC Ensembl
Innerchr2:71779115..71839814hg19UCSC Ensembl
Innerchr2:71632623..71693322hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3860700
hg1960700
hg1860700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3865n100
Supporting Variantsnssv3577303, nssv3577302, nssv3577304
Samples
Known GenesDYSF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002171
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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