A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18233531



Internal ID20800571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100428001..100907900hg38UCSC Ensembl
chr7:100025624..100505520hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38479900
hg19479897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6607668
Supporting Variants
Samples
Known GenesACHE, ACTL6B, AGFG2, C7orf61, EPHB4, EPO, FBXO24, GIGYF1, GNB2, LRCH4, MEPCE, MIR6875, MOSPD3, NYAP1, PCOLCE, PCOLCE-AS1, POP7, PPP1R35, SAP25, SLC12A9, SRRT, TFR2, TRIP6, TSC22D4, UFSP1, ZAN, ZCWPW1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18233531
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer