A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581639



Internal ID18879920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48544081..49239411hg38UCSC Ensembl
Innerchr2:48771220..49466550hg19UCSC Ensembl
Innerchr2:48624724..49320054hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38695331
hg19695331
hg18695331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002793
Supporting Variants
Samples
Known GenesFSHR, GTF2A1L, LHCGR, STON1, STON1-GTF2A1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3581639
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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