A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3676735



Internal ID18628330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142705687..142768033hg38UCSC Ensembl
Innerchr7:142413494..142486373hg19UCSC Ensembl
Innerchr7:142093074..142167474hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3862347
hg1972880
hg1874401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021910
Supporting Variants
Samples
Known GenesPRSS1, PRSS2, PRSS3P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3676735
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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