A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997416



Internal ID18810266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16617106..16788205hg38UCSC Ensembl
Innerchr1:16943601..17114700hg19UCSC Ensembl
Innerchr1:16816188..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38171100
hg19171100
hg18171100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65n100
Supporting Variantsnssv3480646, nssv3465984, nssv3467240
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997416
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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