A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3544150



Internal ID18842431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41265421..41284967hg38UCSC Ensembl
Innerchr17:39421673..39441219hg19UCSC Ensembl
Innerchr17:36675199..36694745hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3819547
hg1919547
hg1819547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056139
Supporting Variants
Samples
Known GenesKRTAP9-6, KRTAP9-7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3544150
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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