A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007175



Internal ID18749706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1621349..1672921hg38UCSC Ensembl
Innerchr2:1625121..1676693hg19UCSC Ensembl
Innerchr2:1604128..1655700hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3851573
hg1951573
hg1851573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3571283
Samples
Known GenesPXDN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007175
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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