A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002825



Internal ID18745357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237564221..237600869hg38UCSC Ensembl
Innerchr2:238472864..238509512hg19UCSC Ensembl
Innerchr2:238137603..238174251hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3836649
hg1936649
hg1836649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4192n100
Supporting Variantsnssv3586957
Samples
Known GenesPRLH, RAB17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002825
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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