A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999627



Internal ID19159163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97360488..97658064hg38UCSC Ensembl
Innerchr2:98013814..98274527hg19UCSC Ensembl
Innerchr2:97379953..97640959hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38297577
hg19260714
hg18261007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4026n100
Supporting Variantsnssv3729162, nssv3580038, nssv3580040, nssv3580039
Samples
Known GenesACTR1B, ANKRD36B, COX5B, 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)nsv999627
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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